Chen, 2015: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
22
|
No
|
-Motor
Dyskinesia Axial hypotonia Motor delay Cerebellar signs Myoclonus Chorea Dysarthria Facial twitches Paroxysmal dyskinesia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
9
|
No
|
Axial hypotonia
Gait impairment -Motor Motor delay Dyskinesia Myoclonus Delayed gross motor development Hyperreflexia Seizures Dysarthria Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
5
|
42
|
Yes
|
Postural tremor
Dyskinesia Trigger: Anxiety Tremor (any or unspecified) -Motor Chorea Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
No
|
Dyskinesia
Chorea Dysarthria Cognitive impairment Myoclonus -Motor Cerebellar signs Axial hypotonia Facial twitches Hyperreflexia Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
29
|
No
|
n.a.
|
||
No
|
♀
|
C
|
USA
|
3
|
71
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
8
|
Yes
|
Dystonia, axial
Dystonia, limb Motor delay Dyskinesia Axial hypotonia Gait impairment -Motor Muscular hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
68
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
No
|
n.a.
|